Canonical Allele Identifier: CA393675114
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908741A>C , CM000677.2:g.98908741A>C GRCh38
NC_000015.9:g.99451970A>C , CM000677.1:g.99451970A>C GRCh37
NC_000015.8:g.97269493A>C NCBI36
NG_009492.1:g.264210A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1304A>C ENSP00000496919.1:p.Asp435Ala
ENST00000650285.1:c.1304A>C MANE Select ENSP00000497069.1:p.Asp435Ala
ENST00000268035.10:c.1304A>C ENSP00000268035.6:p.Asp435Ala
ENST00000558762.5:c.1304A>C ENSP00000453007.1:p.Asp435Ala
ENST00000558898.1:c.395A>C ENSP00000454115.1:p.Asp132Ala
ENST00000559582.1:n.211A>C
ENST00000559925.5:n.1304A>C
NM_000875.4:c.1304A>C NP_000866.1:p.Asp435Ala
NM_001291858.1:c.1304A>C NP_001278787.1:p.Asp435Ala
XM_011521513.1:c.1367A>C XP_011519815.1:p.Asp456Ala
XM_011521514.1:c.1367A>C XP_011519816.1:p.Asp456Ala
XM_011521515.1:c.1367A>C XP_011519817.1:p.Asp456Ala
XM_011521516.1:c.395A>C XP_011519818.1:p.Asp132Ala
XM_011521517.1:c.-32A>C XP_011519819.1:n.-32A>C
XM_011521516.2:c.395A>C XP_011519818.1:p.Asp132Ala
XM_011521517.2:c.-32A>C XP_011519819.1:n.-32A>C
XM_017022136.1:c.1379A>C XP_016877625.1:p.Asp460Ala
XM_017022137.1:c.1379A>C XP_016877626.1:p.Asp460Ala
XM_017022138.1:c.1379A>C XP_016877627.1:p.Asp460Ala
XM_017022139.1:c.941A>C XP_016877628.1:p.Asp314Ala
XM_024449913.1:c.395A>C XP_024305681.1:p.Asp132Ala
NM_000875.5:c.1304A>C MANE Select NP_000866.1:p.Asp435Ala
NM_001291858.2:c.1304A>C NP_001278787.1:p.Asp435Ala